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Volumn 68, Issue 1, 1997, Pages 76-81

A paternally derived inverted duplication of 7q with evidence of a telomeric deletion

Author keywords

7q; deletion; duplication; inverted

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 7Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; FETUS; HUMAN; HUMAN TISSUE; HYDROCEPHALUS; LOW SET EAR; MICROGNATHIA; PHENOTYPE; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY; TELOMERE;

EID: 0031031423     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970110)68:1<76::AID-AJMG15>3.0.CO;2-L     Document Type: Article
Times cited : (27)

References (29)
  • 1
    • 0028297940 scopus 로고
    • Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8
    • Barber JCK, James RS, Patch C, Temple IK (1994): Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8. Am J Med Genet 50:296-299.
    • (1994) Am J Med Genet , vol.50 , pp. 296-299
    • Barber, J.C.K.1    James, R.S.2    Patch, C.3    Temple, I.K.4
  • 3
  • 5
    • 0003893137 scopus 로고
    • Cold Spring Harbor: Cold Spring Harbor Laboratory Press
    • Blackburn EH, Greider CW (1995): "Telomeres." Cold Spring Harbor: Cold Spring Harbor Laboratory Press, pp 271-272.
    • (1995) Telomeres , pp. 271-272
    • Blackburn, E.H.1    Greider, C.W.2
  • 8
    • 0023257421 scopus 로고
    • Inverted tandem duplication generates a duplication deficiency of chromosome 8p
    • Dill FJ, Schertzer M, Sandercock J, Tischler B, Wood S (1987): Inverted tandem duplication generates a duplication deficiency of chromosome 8p. Clin Genet 32:109-113.
    • (1987) Clin Genet , vol.32 , pp. 109-113
    • Dill, F.J.1    Schertzer, M.2    Sandercock, J.3    Tischler, B.4    Wood, S.5
  • 10
    • 0028247558 scopus 로고
    • Report of the first international workshop on human chromosome 7 mapping 1993
    • Grzeschik K-H, Tsui L-C, Green ED (1994): Report of the first international workshop on human chromosome 7 mapping 1993. Cytogenet Cell Genet 65:52-62.
    • (1994) Cytogenet Cell Genet , vol.65 , pp. 52-62
    • Grzeschik, K.-H.1    Tsui, L.-C.2    Green, E.D.3
  • 11
    • 0029087828 scopus 로고
    • Clinical cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization
    • Guo W-J, Callif-Daley F, Zapata MC, Miller ME (1995): Clinical cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization. Am J Med Genet 58:230-236.
    • (1995) Am J Med Genet , vol.58 , pp. 230-236
    • Guo, W.-J.1    Callif-Daley, F.2    Zapata, M.C.3    Miller, M.E.4
  • 12
    • 0026451619 scopus 로고
    • De novo inverted duplication of chromosome 7q
    • Haslam JS, Norman AM (1992): De novo inverted duplication of chromosome 7q. J Med Genet 29:837-838.
    • (1992) J Med Genet , vol.29 , pp. 837-838
    • Haslam, J.S.1    Norman, A.M.2
  • 13
    • 0025821020 scopus 로고
    • Familial holoprosencephaly associated with a translocation break-point at chromosomal position 7q36
    • Hatziioannou AG, Krauss CM, Lewis MB, Halazonetis TD (1991): Familial holoprosencephaly associated with a translocation break-point at chromosomal position 7q36. Am J Med Genet 40:201-205.
    • (1991) Am J Med Genet , vol.40 , pp. 201-205
    • Hatziioannou, A.G.1    Krauss, C.M.2    Lewis, M.B.3    Halazonetis, T.D.4
  • 14
    • 0027364452 scopus 로고
    • VNTR and microsatellite polymorphisms within the subtelomeric region of 7q
    • Hing AV, Helms C, Donis-Keller H (1993): VNTR and microsatellite polymorphisms within the subtelomeric region of 7q. Am J Hum Genet 53:509-517.
    • (1993) Am J Hum Genet , vol.53 , pp. 509-517
    • Hing, A.V.1    Helms, C.2    Donis-Keller, H.3
  • 16
    • 0027494343 scopus 로고
    • De novo truncation of chromosome 16p and healing with (TTAGGG)n in the α-thalassemia/mental retardation syndrome (ATR-16)
    • Lamb J, Harris PC, Wikie AOM, Wood WG, Dauwerse JG, Higgs DR (1993): De novo truncation of chromosome 16p and healing with (TTAGGG)n in the α-thalassemia/mental retardation syndrome (ATR-16). Am J Hum Genet 52:668-676.
    • (1993) Am J Hum Genet , vol.52 , pp. 668-676
    • Lamb, J.1    Harris, P.C.2    Wikie, A.O.M.3    Wood, W.G.4    Dauwerse, J.G.5    Higgs, D.R.6
  • 17
    • 0025064394 scopus 로고
    • Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis
    • Lurie IW, Ilyina HG, Podleschuk LV, Gorelik LB, Zaletajev DV (1990): Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis. Am J Med Genet 35:286-288.
    • (1990) Am J Med Genet , vol.35 , pp. 286-288
    • Lurie, I.W.1    Ilyina, H.G.2    Podleschuk, L.V.3    Gorelik, L.B.4    Zaletajev, D.V.5
  • 20
    • 0025808098 scopus 로고
    • Recognition of a chromosome truncation site associated with α-thalassemia by human telomerase
    • Morin GB (1991): Recognition of a chromosome truncation site associated with α-thalassemia by human telomerase. Nature 353: 454-456.
    • (1991) Nature , vol.353 , pp. 454-456
    • Morin, G.B.1
  • 21
    • 0026774858 scopus 로고
    • A comprehensive genetic linkage map of the human genome
    • NIH/CEPH Collaborative Mapping Group (1992): A comprehensive genetic linkage map of the human genome. Science 258:67-86.
    • (1992) Science , vol.258 , pp. 67-86
  • 22
    • 0022446922 scopus 로고
    • Cytogenetic analysis using quantitative, high sensitive, fluorescence in situ hybridization
    • Pinkel D, Straume T, Gray J (1986): Cytogenetic analysis using quantitative, high sensitive, fluorescence in situ hybridization. Proc Natl Acad Sci USA 83:2934-2938.
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 2934-2938
    • Pinkel, D.1    Straume, T.2    Gray, J.3
  • 23
    • 0343319476 scopus 로고
    • Fluorescence in situ hybridization with human chromosome-specific libraries: Detection of trisomy 21 and translocations of chromosome 4
    • Pinkel D, Landegent J, Collins C, Fuscoe J, Segraves R, Lucas J, Gray J (1988): Fluorescence in situ hybridization with human chromosome-specific libraries: Detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA 85:9138-9142.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 9138-9142
    • Pinkel, D.1    Landegent, J.2    Collins, C.3    Fuscoe, J.4    Segraves, R.5    Lucas, J.6    Gray, J.7
  • 24
    • 0029642049 scopus 로고
    • Duplication/deletion of chromosome 8p
    • Priest JH (1995): Duplication/deletion of chromosome 8p. Am J Med Genet 58:237.
    • (1995) Am J Med Genet , vol.58 , pp. 237
    • Priest, J.H.1
  • 25
    • 0028899549 scopus 로고
    • A rapid method for PCR amplification of DNA directly from cells fixed in candy's fixative
    • Shibo L, Tuck-Muller CM, Yan Q, Wertelecki W, Chen H (1995): A rapid method for PCR amplification of DNA directly from cells fixed in candy's fixative. Am J Med Genet 55:116-119.
    • (1995) Am J Med Genet , vol.55 , pp. 116-119
    • Shibo, L.1    Tuck-Muller, C.M.2    Yan, Q.3    Wertelecki, W.4    Chen, H.5
  • 27
    • 0024816743 scopus 로고
    • Partial trisomy of chromosome 7 due to balanced chromosome translocation in the father
    • Stumpner P (1989): Partial trisomy of chromosome 7 due to balanced chromosome translocation in the father. Geburtshilfe Frauenheilkunde 49:1090-1092.
    • (1989) Geburtshilfe Frauenheilkunde , vol.49 , pp. 1090-1092
    • Stumpner, P.1
  • 29
    • 0025007621 scopus 로고
    • A truncated human chromosome 16 associated with α-thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n
    • Wilkie AOM, Lamb J, Harris PC, Finney RD, Higgs DR (1990): A truncated human chromosome 16 associated with α-thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n. Nature 346:868-871.
    • (1990) Nature , vol.346 , pp. 868-871
    • Wilkie, A.O.M.1    Lamb, J.2    Harris, P.C.3    Finney, R.D.4    Higgs, D.R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.